K10N (p.Lys10Asn) variant of GNAT1 (P11488)
K10N (p.Lys10Asn) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K10N (p.Lys10Asn) variant details
- p.Lys10Asn
- gnomAD 3-50191755-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.55
- CADD 24.80
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available